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Aliases for KCNB1 Gene

Aliases for KCNB1 Gene

  • Potassium Voltage-Gated Channel Subfamily B Member 1 2 3
  • Potassium Voltage-Gated Channel, Shab-Related Subfamily, Member 1 2 3
  • Voltage-Gated Potassium Channel Subunit Kv2.1 3 4
  • Delayed Rectifier Potassium Channel 1 3 4
  • DRK1 3 4
  • Potassium Channel, Voltage Gated Shab Related Subfamily B, Member 1 5
  • H-DRK1 4
  • Kv2.1 3

External Ids for KCNB1 Gene

Previous GeneCards Identifiers for KCNB1 Gene

  • GC20M047717
  • GC20M048626
  • GC20M048673
  • GC20M047421
  • GC20M047984
  • GC20M044737

Summaries for KCNB1 Gene

Entrez Gene Summary for KCNB1 Gene

  • Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNB1 Gene

KCNB1 (Potassium Voltage-Gated Channel Subfamily B Member 1) is a Protein Coding gene. Diseases associated with KCNB1 include epileptic encephalopathy, early infantile, 26 and undetermined early-onset epileptic encephalopathy. Among its related pathways are Metabolism and Transmission across Chemical Synapses. GO annotations related to this gene include ion channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNB2.

UniProtKB/Swiss-Prot for KCNB1 Gene

  • Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain (PubMed:23161216). Plays also a role in the regulation of exocytosis independently of its electrical function (By similarity). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization (PubMed:8081723, PubMed:1283219, PubMed:10484328, PubMed:12560340, PubMed:19074135, PubMed:19717558, PubMed:24901643). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB2; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1, creating a functionally diverse range of channel complexes (PubMed:10484328, PubMed:11852086, PubMed:12060745, PubMed:19074135, PubMed:19717558, PubMed:24901643). Heterotetrameric channel activity formed with KCNS3 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). Channel properties are also modulated by cytoplasmic ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3, slowing activation and inactivation rate of the delayed rectifier potassium channels (By similarity). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Major contributor to the slowly inactivating delayed-rectifier voltage-gated potassium current in neurons of the central nervous system, sympathetic ganglion neurons, neuroendocrine cells, pancreatic beta cells, cardiomyocytes and smooth muscle cells. Mediates the major part of the somatodendritic delayed-rectifier potassium current in hippocampal and cortical pyramidal neurons and sympathetic superior cervical ganglion (CGC) neurons that acts to slow down periods of firing, especially during high frequency stimulation. Plays a role in the induction of long-term potentiation (LTP) of neuron excitability in the CA3 layer of the hippocampus (By similarity). Contributes to the regulation of glucose-induced action potential amplitude and duration in pancreatic beta cells, hence limiting calcium influx and insulin secretion (PubMed:23161216). Plays a role in the regulation of resting membrane potential and contraction in hypoxia-treated pulmonary artery smooth muscle cells. May contribute to the regulation of the duration of both the action potential of cardiomyocytes and the heart ventricular repolarization QT interval. Contributes to the pronounced pro-apoptotic potassium current surge during neuronal apoptotic cell death in response to oxidative injury. May confer neuroprotection in response to hypoxia/ischemic insults by suppressing pyramidal neurons hyperexcitability in hippocampal and cortical regions (By similarity). Promotes trafficking of KCNG3, KCNH1 and KCNH2 to the cell surface membrane, presumably by forming heterotetrameric channels with these subunits (PubMed:12060745). Plays a role in the calcium-dependent recruitment and release of fusion-competent vesicles from the soma of neurons, neuroendocrine and glucose-induced pancreatic beta cells by binding key components of the fusion machinery in a pore-independent manner (By similarity).

Tocris Summary for KCNB1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNB1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNB1 Gene

Genomics for KCNB1 Gene

Regulatory Elements for KCNB1 Gene

Promoters for KCNB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNB1 Gene

Chromosome:
20
Start:
49,363,877 bp from pter
End:
49,484,297 bp from pter
Size:
120,421 bases
Orientation:
Minus strand

Genomic View for KCNB1 Gene

Genes around KCNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNB1 Gene

Proteins for KCNB1 Gene

  • Protein details for KCNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14721-KCNB1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily B member 1
    Protein Accession:
    Q14721
    Secondary Accessions:
    • Q14193

    Protein attributes for KCNB1 Gene

    Size:
    858 amino acids
    Molecular mass:
    95878 Da
    Quaternary structure:
    • Homotetramer or heterotetramer with KCNB2 (PubMed:8081723, PubMed:1283219). Heterotetramer with non-conducting channel-forming alpha subunits such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1 (PubMed:10484328, PubMed:11852086, PubMed:12060745, PubMed:19357235, PubMed:19074135, PubMed:19717558, PubMed:24901643). Channel activity is regulated by association with ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3 (By similarity). Self-associates (via N-terminus and C-terminus) (PubMed:12560340, PubMed:24901643); self-association is required to regulate trafficking, gating and C-terminal phosphorylation-dependent modulation of the channel (By similarity). Interacts (via C-terminus) with STX1A (via C-terminus); this decreases the rate of channel activation and increases the rate of channel inactivation in pancreatic beta cells, induces also neuronal apoptosis in response to oxidative injury as well as pore-independent enhancement of exocytosis in neuroendocrine cells, chromaffin cells, pancreatic beta cells and from the soma of dorsal root ganglia (DRG) neurons. Interacts (via N-terminus) with SNAP25; this decreases the rate of channel inactivation in pancreatic beta cells and also increases interaction during neuronal apoptosis in a N-methyl-D-aspartate receptor (NMDAR)-dependent manner. Interacts (via N-terminus and C-terminus) with VAMP2 (via N-terminus); stimulates channel inactivation rate. Interacts with CREB1; this promotes channel acetylation in response to stimulation of incretin hormones. Interacts (via N-terminus and C-terminus) with MYL12B. Interacts (via N-terminus) with PIAS3; this increases the number of functional channels at the cell surface (By similarity). Interacts with SUMO1 (PubMed:19223394). Interacts (via phosphorylated form) with PTPRE; this reduces phosphorylation and channel activity in heterologous cells (By similarity).
    SequenceCaution:
    • Sequence=AAA36156.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KCNB1 Gene

Proteomics data for KCNB1 Gene at MOPED

Post-translational modifications for KCNB1 Gene

  • Acetylated. Acetylation occurs in pancreatic beta cells in response to stimulation by incretin hormones in a histone acetyltransferase (HAT)/histone deacetylase (HDAC)-dependent signaling pathway, promoting beta cell survival.
  • Phosphorylated. Differential C-terminal phosphorylation on a subset of serines allows graded activity-dependent regulation of channel gating in hippocampal neurons. Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through phosphorylation/dephosphorylation activities. Tyr-128 can be phosphorylated by Src and dephosphorylated by cytoplasmic form of the phosphatase PTPRE. CDK5-induced Ser-607 phosphorylation increases in response to acute blockade of neuronal activity. Phosphorylated on Tyr-128 by Src and on Ser-805 by MAPK14/P38MAPK; phosphorylations are necessary and sufficient for an increase in plasma membrane insertion, apoptotic potassium current surge and completion of the neuronal cell death program. Phosphorylated on Ser-520, Ser-607, Ser-656 and Ser-805 by CDK5; phosphorylation is necessary for KCNB1 channel clustering formation. The Ser-607 phosphorylation state differs between KCNB1-containing clusters on the proximal and distal portions of the axon initial segment (AIS). Highly phosphorylated on serine residues in the C-terminal cytoplasmic tail in resting neurons. Phosphorylated in pancreatic beta cells in response to incretin hormones stimulation in a PKA- and RPS6KA5/MSK1-dependent signaling pathway, promoting beta cell survival. Phosphorylation on Ser-567 is reduced during postnatal development with low levels at P2 and P5; levels then increase to reach adult levels by P14. Phosphorylation on Ser-457, Ser-541, Ser-567, Ser-607, Ser-656 and Ser-720 as well as the N-terminal Ser-15 are sensitive to calcineurin-mediated dephosphorylation contributing to the modulation of the voltage-dependent gating properties. Dephosphorylation by phosphatase PTPRE confers neuroprotection by its inhibitory influence on the neuronal apoptotic potassium current surge in a Zn(2+)-dependent manner. Dephosphorylated at Ser-607 by protein phosphatase PPP1CA. Hypoxia-, seizure- or glutamate-induced neuronal activity promote calcium/calcineurin-dependent dephosphorylation resulting in a loss of KCNB1-containing clustering and enhanced channel activity. In response to brain ischemia, Ser-567 and Ser-607 are strongly dephosphorylated while Ser-457 and Ser-720 are less dephosphorylated. In response to brain seizures, phosphorylation levels on Ser-567 and Ser-607 are greatly reduced. Phosphorylated/dephosphorylated by Src or FYN tyrosine-protein kinases and tyrosine phosphatase PTPRE in primary Schwann cells and sciatic nerve tissue (By similarity).
  • Sumoylated on Lys-474, preferentially with SUMO1; sumoylation induces a positive shift in the voltage-dependence of activation and inhibits channel activity (PubMed:19223394). Sumoylation increases the frequency of repetitive action potential firing at the cell surface of hippocampal neurons and decreases its frequency in pancreatic beta cells (PubMed:19223394). Desumoylated by SENP1 (PubMed:19223394).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KCNB1

No data available for DME Specific Peptides for KCNB1 Gene

Domains & Families for KCNB1 Gene

Gene Families for KCNB1 Gene

Suggested Antigen Peptide Sequences for KCNB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14721

UniProtKB/Swiss-Prot:

KCNB1_HUMAN :
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
  • Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily.
Domain:
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
  • The N-terminal and C-terminal cytoplasmic regions mediate homooligomerization; self-association is required to regulate trafficking, gating and C-terminal phosphorylation-dependent modulation of the channel (PubMed:11852086, PubMed:12060745, PubMed:12560340, PubMed:19074135, PubMed:24901643). The N-terminal cytoplasmic region is important for interaction with other channel-forming alpha subunits and with ancillary beta subunits (PubMed:24901643). The C-terminus is necessary and sufficient for the restricted localization to, and clustering within, both in soma and proximal portions of dendrite of neurons and in lateral membrane of non-neuronal polarized cells. The C-terminus is both necessary and sufficient as a mediator of cholinergic and calcium-stimulated modulation of channel cell membrane clustering localization and activity in hippocampal neurons (By similarity).
Family:
  • Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily.
genes like me logo Genes that share domains with KCNB1: view

Function for KCNB1 Gene

Molecular function for KCNB1 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shab-related subfamily
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Homotetrameric channels expressed in xenopus oocytes or in mammalian non-neuronal cells display delayed-rectifier voltage- dependent potassium currents which are activated during membrane depolarization, i.e within a risetime of about 20 msec (PubMed:8081723, PubMed:1283219). After that, inactivate very slowly, i.e within more than 5 sec (PubMed:8081723, PubMed:1283219). Their activation requires low threshold potentials of about -20 to -30 mV, with a midpoint activation at about 10 mV. For inactivation, the voltage at half-maximal amplitude is about -20 mV (PubMed:11852086). The time constant for recovery after inactivation is about 1.6 sec. Channels have an unitary conductance of about 8 pS (PubMed:10484328). The voltage-dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system, the presence or absence of ancillary subunits and post-translational modifications. {ECO:0000250 UniProtKB:P15387, ECO:0000269 PubMed:10484328, ECO:0000269 PubMed:11852086, ECO:0000269 PubMed:1283219, ECO:0000269 PubMed:8081723, ECO:0000305 PubMed:10414301, ECO:0000305 PubMed:15858231};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 12.7 nM stromatoxin 1 (ScTx1), a spider venom toxin of the tarantula S.calceata (PubMed:14565763). Inhibited by 42 nM hanatoxin 1 (HaTx1), a spider venom toxin of the tarantula G.spatulata (PubMed:14565763). Modestly sensitive to millimolar levels of tetraethylammonium (TEA) (PubMed:8081723, PubMed:1283219). Modestly sensitive to millimolar levels of 4-aminopyridine (4-AP). Completely insensitive to toxins such as dendrotoxin (DTX) and charybdotoxin (CTX) (By similarity).
UniProtKB/Swiss-Prot Function:
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain (PubMed:23161216). Plays also a role in the regulation of exocytosis independently of its electrical function (By similarity). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization (PubMed:8081723, PubMed:1283219, PubMed:10484328, PubMed:12560340, PubMed:19074135, PubMed:19717558, PubMed:24901643). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB2; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1, creating a functionally diverse range of channel complexes (PubMed:10484328, PubMed:11852086, PubMed:12060745, PubMed:19074135, PubMed:19717558, PubMed:24901643). Heterotetrameric channel activity formed with KCNS3 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). Channel properties are also modulated by cytoplasmic ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3, slowing activation and inactivation rate of the delayed rectifier potassium channels (By similarity). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Major contributor to the slowly inactivating delayed-rectifier voltage-gated potassium current in neurons of the central nervous system, sympathetic ganglion neurons, neuroendocrine cells, pancreatic beta cells, cardiomyocytes and smooth muscle cells. Mediates the major part of the somatodendritic delayed-rectifier potassium current in hippocampal and cortical pyramidal neurons and sympathetic superior cervical ganglion (CGC) neurons that acts to slow down periods of firing, especially during high frequency stimulation. Plays a role in the induction of long-term potentiation (LTP) of neuron excitability in the CA3 layer of the hippocampus (By similarity). Contributes to the regulation of glucose-induced action potential amplitude and duration in pancreatic beta cells, hence limiting calcium influx and insulin secretion (PubMed:23161216). Plays a role in the regulation of resting membrane potential and contraction in hypoxia-treated pulmonary artery smooth muscle cells. May contribute to the regulation of the duration of both the action potential of cardiomyocytes and the heart ventricular repolarization QT interval. Contributes to the pronounced pro-apoptotic potassium current surge during neuronal apoptotic cell death in response to oxidative injury. May confer neuroprotection in response to hypoxia/ischemic insults by suppressing pyramidal neurons hyperexcitability in hippocampal and cortical regions (By similarity). Promotes trafficking of KCNG3, KCNH1 and KCNH2 to the cell surface membrane, presumably by forming heterotetrameric channels with these subunits (PubMed:12060745). Plays a role in the calcium-dependent recruitment and release of fusion-competent vesicles from the soma of neurons, neuroendocrine and glucose-induced pancreatic beta cells by binding key components of the fusion machinery in a pore-independent manner (By similarity).
genes like me logo Genes that share phenotypes with KCNB1: view

Human Phenotype Ontology for KCNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNB1 Gene

MGI Knock Outs for KCNB1:

Animal Model Products

miRNA for KCNB1 Gene

miRTarBase miRNAs that target KCNB1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KCNB1 Gene

Localization for KCNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNB1 Gene

Cell membrane. Perikaryon. Cell projection, axon. Cell projection, dendrite. Membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse. Cell junction, synapse, synaptosome. Lateral cell membrane. Cell membrane, sarcolemma. Note=Localizes to high-density somatodendritic clusters and non-clustered sites on the surface of neocortical and hippocampal pyramidal neurons in a cortical actin cytoskeleton-dependent manner (PubMed:24477962). Localizes also to high-density clusters in the axon initial segment (AIS), at ankyrin-G-deficient sites, on the surface of neocortical and hippocampal pyramidal neurons (PubMed:24477962). KCNB1-containing AIS clusters localize either in close apposition to smooth endoplasmic reticulum cisternal organelles or with GABA-A receptor-containing synapses of hippocampal and cortical pyramidal neurons, respectively (PubMed:24477962). Localizes to high-density clusters on the cell surface of atrial and ventricular myocytes and at the lateral plasma membrane in epithelial cells. Localizes both to the axial and transverse tubules (T tubule) and sarcolemma in ventricular myocytes. Associated with lipid raft domains. In cortical neurons, apoptotic injuries induce de novo plasma membrane insertion in a SNARE-dependent manner causing an apoptotic potassium current surge. {ECO:0000250 UniProtKB:P15387, ECO:0000250 UniProtKB:Q03717, ECO:0000269 PubMed:12060745, ECO:0000269 PubMed:19074135, ECO:0000269 PubMed:24477962, ECO:0000269 PubMed:24901643}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNB1 Gene COMPARTMENTS Subcellular localization image for KCNB1 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA,ISS --
GO:0016328 lateral plasma membrane IEA --
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with KCNB1: view

Pathways & Interactions for KCNB1 Gene

genes like me logo Genes that share pathways with KCNB1: view

Pathways by source for KCNB1 Gene

SIGNOR curated interactions for KCNB1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential IDA 19223394
GO:0006112 energy reserve metabolic process TAS --
GO:0006904 vesicle docking involved in exocytosis ISS --
GO:0007215 glutamate receptor signaling pathway ISS --
GO:0031669 cellular response to nutrient levels ISS --
genes like me logo Genes that share ontologies with KCNB1: view

Drugs & Compounds for KCNB1 Gene

(11) Drugs for KCNB1 Gene - From: IUPHAR, DGIdb, Tocris, Novoseek, DrugBank, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dalfampridine Approved Pharma Pore Blocker, Target, antagonist 62
Gliquidone Approved Pharma 5
Tolbutamide Approved Pharma Inhibitor CAMP inhibitor 21
tetraethylammonium Experimental Pharma Inhibitor 1
3-bicyclo[2.2.1]hept-2-yl-benzene-1,2-diol Pharma Pore Blocker 0

(4) Additional Compounds for KCNB1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCNB1 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4

(2) ApexBio Compounds for KCNB1 Gene

Compound Action Cas Number
Gliquidone 33342-05-1
Tolbutamide CAMP inhibitor 64-77-7
genes like me logo Genes that share compounds with KCNB1: view

Transcripts for KCNB1 Gene

mRNA/cDNA for KCNB1 Gene

Unigene Clusters for KCNB1 Gene

Potassium voltage-gated channel, Shab-related subfamily, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNB1 Gene

No ASD Table

Relevant External Links for KCNB1 Gene

GeneLoc Exon Structure for
KCNB1
ECgene alternative splicing isoforms for
KCNB1

Expression for KCNB1 Gene

mRNA expression in normal human tissues for KCNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNB1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.4), Brain - Cortex (x5.0), and Brain - Anterior cingulate cortex (BA24) (x4.0).

Protein differential expression in normal tissues from HIPED for KCNB1 Gene

This gene is overexpressed in Retina (60.7) and Frontal cortex (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNB1 Gene



SOURCE GeneReport for Unigene cluster for KCNB1 Gene Hs.84244

mRNA Expression by UniProt/SwissProt for KCNB1 Gene

Q14721-KCNB1_HUMAN
Tissue specificity: Expressed in neocortical pyramidal cells (PubMed:24477962). Expressed in pancreatic beta cells (at protein level) (PubMed:12403834, PubMed:14988243). Expressed in brain, heart, lung, liver, colon, kidney and adrenal gland (PubMed:19074135). Expressed in the cortex, amygdala, cerebellum, pons, thalamus, hypothalamus, hippocampus and substantia nigra (PubMed:19074135).
genes like me logo Genes that share expression patterns with KCNB1: view

Protein tissue co-expression partners for KCNB1 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNB1 35
  • 91.96 (n)
  • 96.39 (a)
KCNB1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNB1 35
  • 93.32 (n)
  • 97.44 (a)
KCNB1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnb1 35
  • 86.62 (n)
  • 93.82 (a)
Kcnb1 16
Kcnb1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNB1 35
  • 99.73 (n)
  • 100 (a)
KCNB1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnb1 35
  • 86.91 (n)
  • 94.14 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNB1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNB1 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNB1 35
  • 75.44 (n)
  • 84.53 (a)
KCNB1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnb1 35
  • 70.22 (n)
  • 78.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia kcnb1-A 35
zebrafish
(Danio rerio)
Actinopterygii kcnb1 35
  • 67.81 (n)
  • 71.04 (a)
kcnb1 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Shab 37
  • 69 (a)
Shab 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32C4.1 37
  • 36 (a)
exp-2 37
  • 37 (a)
F44A2.2 37
  • 33 (a)
Y48A6B.6 37
  • 37 (a)
Y55F3C.3 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 70 (a)
OneToMany
Species with no ortholog for KCNB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNB1 Gene

ENSEMBL:
Gene Tree for KCNB1 (if available)
TreeFam:
Gene Tree for KCNB1 (if available)

Paralogs for KCNB1 Gene

Paralogs for KCNB1 Gene

genes like me logo Genes that share paralogs with KCNB1: view

Variants for KCNB1 Gene

Sequence variations from dbSNP and Humsavar for KCNB1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs34467662 - 49,373,087(-) AAGGC(C/T)CCAGT reference, missense
rs2229006 -, - 49,373,713(-) CAAGA(A/C/G)TGGGG reference, missense
rs34280195 - 49,372,990(-) TCAGA(A/G)CATCT reference, missense
VAR_071991 Epileptic encephalopathy, early infantile, 26 (EIEE26)
VAR_071992 Epileptic encephalopathy, early infantile, 26 (EIEE26)

Structural Variations from Database of Genomic Variants (DGV) for KCNB1 Gene

Variant ID Type Subtype PubMed ID
nsv509775 CNV Insertion 20534489
nsv912914 CNV Loss 21882294
esv2661866 CNV Deletion 23128226
nsv527882 CNV Loss 19592680
nsv459001 CNV Loss 19166990

Variation tolerance for KCNB1 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNB1 Gene

HapMap Linkage Disequilibrium report
KCNB1
Human Gene Mutation Database (HGMD)
KCNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNB1 Gene

Disorders for KCNB1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KCNB1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 26
  • early infantile epileptic encephalopathy 26
undetermined early-onset epileptic encephalopathy
  • undetermined eoee
brain ischemia
blastomycosis
  • blastomyces dermatitidis infection
encephalopathy
  • brain diseases
- elite association - COSMIC cancer census association via MalaCards
Search KCNB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNB1_HUMAN
  • Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. {ECO:0000269 PubMed:25164438, ECO:0000269 PubMed:26477325, ECO:0000269 PubMed:26503721}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNB1

Genetic Association Database (GAD)
KCNB1
Human Genome Epidemiology (HuGE) Navigator
KCNB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNB1
genes like me logo Genes that share disorders with KCNB1: view

No data available for Genatlas for KCNB1 Gene

Publications for KCNB1 Gene

  1. Synaptosome-associated protein of 25 kilodaltons modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus. (PMID: 12403834) MacDonald P.E. … Gaisano H.Y. (Mol. Endocrinol. 2002) 3 4 23 67
  2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3
  3. Oxygen-sensitive Kv channel gene transfer confers oxygen responsiveness to preterm rabbit and remodeled human ductus arteriosus: implications for infants with patent ductus arteriosus. (PMID: 15353504) ThAcbaud B. … Archer S.L. (Circulation 2004) 3 23
  4. Physical and genetic localization of a Shab subfamily potassium channel (KCNB1) gene to chromosomal region 20q13.2. (PMID: 7774931) Melis R. … Leppert M. (Genomics 1995) 2 3
  5. GDF15 regulates Kv2.1-mediated outward K+ current through the Akt/mTOR signalling pathway in rat cerebellar granule cells. (PMID: 24597762) Wang C.Y. … Mei Y.A. (Biochem. J. 2014) 3

Products for KCNB1 Gene

Sources for KCNB1 Gene

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